Individual #00331438

ID_report DG08RC00033
Reference PubMed: Maddirevula 2018
Remarks isolated case
Gender M
Consanguinity no
Country -
Population Arab
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases skeletal dysplasia
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

dysplasia, skeletal (skeletal dysplasia)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000249630 skeletal dysplasia Craniosynostosis syndromes Abnormality of the face, Caudal appendage, Syndactyly, Natal teeth, Choanal atresia, DyspYes Familial, autosomal dominant - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332657 DNA SEQ;SEQ-NG - WES FGFR2 1 LOVD



Variants

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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
10 Unknown +/. - pathogenic (dominant) g.123279562C>G g.121520048C>G NM_000141.4:c.870G>C:p.(Trp290Cys) - FGFR2_000007 - PubMed: Maddirevula 2018 - - De novo - - - 0 - LOVD FGFR2 - - - - - NM_000141.4:c.870G>C - r.(?) p.(Trp290Cys) - - - - - - - - - - - - - - - - - - -
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